Abstract
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen. The disease is usually diagnosed when neurological symptoms appear. We report an unusual presentation of NPCD in a young asymptomatic adult with isolated nodular splenomegaly.
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Omarini, L.P.A., Frank-Burkhardt, S.E., Seemayer, T.A. et al. Niemann-Pick disease type C: nodular splenomegaly. Abdom Imaging 20, 157–160 (1995). https://doi.org/10.1007/BF00201528
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DOI: https://doi.org/10.1007/BF00201528